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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking REEP1 and paraplegia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8556508 (Homo sapiens)
  • 718 RGD objects have been annotated to paraplegia  (DOID:607)
  • 5 papers in RGD have been used to annotate REEP1
  • Curation Notes: ClinVar Annotator: match by term: Spastic paraplegia
  • Original References(s): PMID:16826527 PMID:18321925 PMID:20718791 PMID:22703882 PMID:23812641 PMID:24478229 PMID:25525159 PMID:25741868 PMID:26201691 PMID:26467025 PMID:28492532 PMID:32581362


    • An association has been curated linking REEP1 and paraplegia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:13804724 (Homo sapiens)
  • 718 RGD objects have been annotated to paraplegia  (DOID:607)
  • 5 papers in RGD have been used to annotate REEP1
  • Curation Notes: ClinVar Annotator: match by term: Spastic paraplegia
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking REEP1 and paraplegia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:127234158|RGD:127234161 (Homo sapiens) & RGD:127234158|RGD:127234161 (Homo sapiens)
  • 718 RGD objects have been annotated to paraplegia  (DOID:607)
  • 5 papers in RGD have been used to annotate REEP1
  • Curation Notes: ClinVar Annotator: match by term: Spastic paraplegia
  • Original References(s): PMID:25741868


    • An association has been curated linking REEP1 and paraplegia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:14711256 (Homo sapiens)
  • 718 RGD objects have been annotated to paraplegia  (DOID:607)
  • 5 papers in RGD have been used to annotate REEP1
  • Curation Notes: ClinVar Annotator: match by term: Spastic paraplegia
  • Original References(s): PMID:16199547 PMID:18321925 PMID:18644145 PMID:22703882 PMID:25741868 PMID:27066569 PMID:28492532 PMID:29124833 PMID:31872057 PMID:32581362


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